A case of neurinoma combined with testicular feminization syndrome

Abstract

A 23-year-old female was admitted to our hospital because of a mediastinal tumor. She complained of primary amenorrhea, and abdominal echosonography was therefore performed, revealing the absence of a uterus. Chromosome analysis revealed a 46 XY genotype, indicating the patient to be a male, not a female. Left renal venography demonstrated residual blood vessels originating in the Mullerian ducts. Thoracotomy and laparotomy were performed, and the mediastinal tumor and bilateral testes were resected. Postoperative pathology revealed that the mediastinal tumor was a neurinoma. There was no spermatogenesis, but hyperplasia of Sertoli cells in the testes was seen. Neither the neurinoma nor the testes were malignant. Bioassay of the testes showed no androgen receptors, leading to the diagnosis of testicular feminization syndrome with the complete form of androgen insensitivity. There have been many reports of an association between testicular feminization syndrome and malignant tumors of the testes, but few reports of an association between testicular feminization syndrome and benign tumors such as neurinoma. Accordingly, the present case was considered to be unusual and worth reporting.